Variant Details

Variant: esv2761054

Internal ID

10377361

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:7818125..7978362	hg38	UCSC Ensembl
Inner	chr12:7970721..8130958	hg19	UCSC Ensembl
Inner	chr12:7861988..8022225	hg18	UCSC Ensembl

Cytoband

12p13.31

Allele length

Assembly	Allele length
hg38	160238
hg19	160238
hg18	160238

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6996584, essv6996576, essv6996593, essv6996574, essv6996595, essv6996563, essv6996587, essv6996575, essv6996566, essv6996598, essv6996561, essv6996562, essv6996583, essv6996590, essv6996569, essv6996594, essv6996568, essv6996565, essv6996592, essv6996564, essv6996581, essv6996586, essv6996591, essv6996572, essv6996580, essv6996570, essv6996588, essv6996577, essv6996571, essv6996585, essv6996582, essv6996573, essv6996597, essv6996579, essv6996596, essv6996560

Samples

SW_0201, SW_0240, SW_1017, SW_0072, SW_1188, SW_1436, SW_0607, SW_1244, SW_0771, SW_0045, SW_0116, SW_0702, SW_1305, SW_0121, SW_1167, SW_1469, SW_1165, SW_1107, SW_1053, SW_0761, SW_1120, SW_0203, SW_1093, SW_0861, SW_0663, SW_1227, SW_0829, SW_0004, SW_0651, SW_0143, SW_1301, SW_1096, SW_1384, SW_1317, SW_1073, SW_1213

Known Genes

SLC2A14, SLC2A3

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)

esv2761054

Frequency

Sample Size	1109
Observed Gain	31
Observed Loss	5
Observed Complex	0
Frequency	n/a