A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665229



Internal ID9931334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:43585279..43592478hg38UCSC Ensembl
chr7:43624878..43632077hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg387200
hg197200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6573338, essv5793099, essv5965866, essv5684510, essv5475226, essv5443374, essv5985821, essv6288386, essv6566133, essv6030668, essv6271247, essv6439355, essv6302746, essv5990233, essv5472085, essv6056674, essv5648547, essv5481522, essv6298013, essv6288163, essv6378281, essv5500331, essv6244052, essv6451171
SamplesNA19648, HG00242, HG00187, NA12004, NA12400, HG00327, HG01366, HG00173, NA11918, HG00334, NA19681, HG00139, HG00120, HG00335, HG01133, NA10847, HG00183, HG00328, NA12003, NA12249, NA20765, NA20522, HG00125, HG01378
Known GenesSTK17A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665229
Frequency
Sample Size1151
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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