A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757717



Internal ID9633176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1389149..2092899hg38UCSC Ensembl
Innerchr1:1324529..2024338hg19UCSC Ensembl
Innerchr1:1314392..2014198hg18UCSC Ensembl
Innerchr1:1409796..2056500hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38703751
hg19699810
hg18699807
hg17646705
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758913
Supporting Variantsessv16833, essv23336, essv16942, essv5472, essv11223, essv7086, essv23590, essv20567, essv3870, essv1830, essv4042, essv5454, essv13898, essv20259, essv11783, essv17964, essv10795, essv21384, essv24958, essv17575, essv21660
SamplesNA19204, NA18504, NA12248, NA12750, NA18635, NA12762, NA10839, NA12003, NA19205, NA18976, NA18537, NA12144, NA18523, NA18632, NA19144, NA12740, NA18994, NA18854, NA07056, NA12006
Known GenesANKRD65, ATAD3A, ATAD3B, ATAD3C, C1orf233, CALML6, CCNL2, CDK11A, CDK11B, GABRD, GNB1, KIAA1751, LOC148413, MIB2, MMP23A, MMP23B, MRPL20, NADK, PRKCZ, SLC35E2, SLC35E2B, SSU72, TMEM240, TMEM52, TMEM88B, VWA1
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)esv2757717
Frequency
Sample Size270
Observed Gain6
Observed Loss15
Observed Complex0
Frequencyn/a


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