Variant Details

Variant: esv2757725

Internal ID

9633184

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:16437838..17157486	hg38	UCSC Ensembl
Inner	chr1:16764333..17483981	hg19	UCSC Ensembl
Inner	chr1:16636920..17356568	hg18	UCSC Ensembl
Inner	chr1:16509639..17229287	hg17	UCSC Ensembl

Cytoband

1p36.13

Allele length

Assembly	Allele length
hg38	719649
hg19	719649
hg18	719649
hg17	719649

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2758925

Supporting Variants

essv19098, essv15858, essv2981, essv21756, essv5576, essv22522, essv19900, essv4715, essv9388, essv5156, essv2165, essv8651, essv10442, essv17163, essv5201, essv4243, essv23350, essv14574, essv12264, essv22908, essv9940, essv11094, essv4644, essv404, essv10302, essv17268, essv16398, essv18376, essv3706, essv23121, essv21315, essv14729, essv17478, essv7560, essv11570, essv8109, essv7828, essv11946, essv11274, essv21549, essv16393, essv6017, essv2656, essv15527, essv5730, essv1374, essv24578, essv6329, essv11626, essv16876, essv14389, essv4752, essv17956, essv9084, essv3203, essv22983, essv14148, essv15729, essv1152, essv7338, essv24418, essv18131, essv15397, essv15101, essv9749, essv14604, essv16154, essv529, essv4977, essv1741, essv24736, essv1164, essv7145, essv2334, essv20425, essv16669, essv9815, essv1465, essv10234, essv20254, essv4125, essv1499, essv2595, essv16000, essv447, essv6909, essv9681, essv20767, essv6578, essv15232, essv3462, essv23488, essv6723, essv20210, essv20074, essv5796, essv24798, essv12804, essv11038, essv3387, essv12558, essv9441, essv22395, essv21290

Samples

NA18998, NA18502, NA19203, NA18621, NA18947, NA11829, NA19204, NA18980, NA18507, NA19145, NA18603, NA18545, NA12146, NA19098, NA12750, NA07357, NA12813, NA18967, NA19171, NA18944, NA18940, NA12891, NA18558, NA18547, NA19131, NA18960, NA11992, NA07048, NA18571, NA12762, NA18964, NA18611, NA19159, NA18990, NA10855, NA19239, NA11993, NA19007, NA18951, NA18605, NA12760, NA19120, NA12003, NA19152, NA12878, NA18515, NA19205, NA18529, NA18637, NA18503, NA18981, NA19208, NA19202, NA18566, NA19142, NA10830, NA12249, NA19154, NA12239, NA18853, NA12707, NA19101, NA18555, NA12144, NA19132, NA18570, NA18593, NA18945, NA18974, NA18608, NA19094, NA11882, NA19206, NA18952, NA18863, NA18564, NA19140, NA18913, NA19100, NA12873, NA18992, NA07055, NA18594, NA19143, NA18501, NA18971, NA19223, NA19173, NA19211, NA19093, NA10860, NA18609, NA18506, NA12875, NA18505, NA19129, NA19139, NA07034, NA18622, NA11832, NA18620, NA18997

Known Genes

ATP13A2, CROCC, CROCCP2, CROCCP3, ESPNP, LOC729574, MFAP2, MIR3675, MST1L, MST1P2, NBPF1, NECAP2, PADI2, SDHB

Method

BAC aCGH

Analysis

Array images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).

Platform

Agilent

Comments

Reference

Redon_et_al_2006

Pubmed ID

17122850

Accession Number(s)

esv2757725

Frequency

Sample Size	270
Observed Gain	74
Observed Loss	30
Observed Complex	0
Frequency	n/a