A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673287



Internal ID9939392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:11313405..11313560hg38UCSC Ensembl
chr6:11313638..11313793hg19UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg38156
hg19156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5968714, essv6447468, essv6129940, essv6224907, essv6522801, essv5700484, essv6400953, essv6375742, essv5522585, essv5931377, essv5968828, essv5404221, essv5535339, essv6015571, essv5536612, essv6592464, essv6595593, essv5603389, essv6332807, essv6295201, essv6086311, essv5428653, essv5439990, essv6350150, essv6083430, essv6460262
SamplesHG01356, HG01389, HG00315, NA19374, HG01350, HG00251, HG01069, HG00106, HG01170, HG00325, NA12889, HG00309, HG00338, HG00282, HG01384, NA20314, HG01107, NA20520, NA20281, NA19360, NA19759, NA18501, NA12749, NA12830, HG01082, NA19758
Known GenesNEDD9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673287
Frequency
Sample Size1151
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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