A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665356



Internal ID9931461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:114012586..114019210hg38UCSC Ensembl
chr7:113652641..113659265hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg386625
hg196625
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6358605, essv5635605, essv5395632, essv6409105, essv6022951, essv6390824, essv5762873
SamplesNA19355, NA19446, NA20769, NA19782, HG01072, NA18908, NA18505
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665356
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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