Variant Details

Variant: esv2763736

Internal ID

10031086

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:16487426..16935752	hg38	UCSC Ensembl
Inner	chr1:16813921..17262247	hg19	UCSC Ensembl
Inner	chr1:16686508..17134834	hg18	UCSC Ensembl

Cytoband

1p36.13

Allele length

Assembly	Allele length
hg38	448327
hg19	448327
hg18	448327

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

dgv1e203

Supporting Variants

essv7006744, essv7001188, essv7005189, essv7001632, essv7002967, essv7003300, essv6997299, essv7006188, essv6999188, essv7007077, essv7006300, essv7001856, essv7006522, essv7004744, essv7005633, essv7003855, essv7003744, essv6998522, essv6997077, essv7003522, essv7007411, essv7002855, essv7002300, essv6999299, essv6998744, essv6997966, essv7000855, essv6998077, essv6997744, essv7001299, essv7002411, essv6999410, essv7006633, essv6999521, essv7004966, essv7000632, essv7002633, essv6999855, essv7000410, essv7002522, essv7007633, essv7003411, essv7003078, essv6998410, essv7002078, essv7007188, essv6998855, essv7003189, essv6998299, essv6997411, essv7003966, essv7004189, essv7005966, essv7005522, essv7003633, essv7004300, essv6996855, essv7005077, essv7000966, essv7002744, essv7001967, essv7005300, essv7004633, essv6997855, essv6999077, essv6997522, essv6999966, essv7006077, essv7000299, essv7006966, essv7000188, essv7002189, essv7004855, essv7000077, essv6999744, essv7001743, essv6996966, essv7005411, essv7006855, essv7006411, essv7001521, essv7000744, essv6998966, essv7004078, essv6999633, essv7005744, essv7004522, essv7000521, essv7004411, essv7005855, essv6997633, essv7007522, essv7001410, essv6998633, essv6997188, essv7007299, essv7001077, essv6998188

Samples

SW_0638, SW_1242, SW_1406, SW_0057, SW_1439, SW_1402, SW_1443, SW_1064, SW_1433, SW_1111, SW_0885, SW_1166, SW_0146, SW_1436, SW_1118, SW_0257, SW_0639, SW_1365, SW_0149, SW_0801, SW_0046, SW_1325, SW_1100, SW_1367, SW_1354, SW_0173, SW_0834, SW_0116, SW_1124, SW_1106, SW_0759, SW_1305, SW_1456, SW_1167, SW_0060, SW_0185, SW_0605, SW_1282, SW_0230, SW_0062, SW_1153, SW_0375, SW_1196, SW_0077, SW_1404, SW_1190, SW_0803, SW_0757, SW_1149, SW_1527, SW_1371, SW_1095, SW_0859, SW_0058, SW_1323, SW_0002, SW_1198, SW_1356, SW_0089, SW_1428, SW_1435, SW_1295, SW_1438, SW_1012, SW_1277, SW_1327, SW_1472, SW_0659, SW_1340, SW_1467, SW_1176, SW_0253, SW_1306, SW_1112, SW_0829, SW_0833, SW_1478, SW_0269, SW_1074, SW_1083, SW_0147, SW_1240, SW_1045, SW_1180, SW_0009, SW_1424, SW_1137, SW_1201, SW_1405, SW_1213, SW_1450, SW_1503

Known Genes

CROCC, CROCCP2, CROCCP3, ESPNP, LOC729574, MIR3675, MST1L, MST1P2, NBPF1

Method

Merging

Analysis

Two different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.

Platform

Merging

Comments

Reference

Vogler_et_al_2010

Pubmed ID

21179565

Accession Number(s)

esv2763736

Frequency

Sample Size	1109
Observed Gain	53
Observed Loss	40
Observed Complex	0
Frequency	n/a