A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663873



Internal ID9929978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:93454250..93454483hg38UCSC Ensembl
chr13:94106503..94106736hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6136584, essv6527903, essv6310895, essv5656115, essv6422594, essv6116368, essv6441729, essv6419436, essv6115420, essv6559677, essv5587260, essv6557308, essv6305194, essv6169393, essv6196941, essv5664341, essv5468327, essv5541976, essv5787388, essv6222903, essv6173329, essv5498414, essv6306042, essv6248550, essv6323528, essv5846031, essv5917341, essv6030042, essv5656551, essv6029779, essv6492416
SamplesHG01060, HG01356, NA18606, HG01051, HG01350, NA19379, HG01070, HG01170, HG00236, HG00325, HG00705, HG00309, HG00338, HG00464, HG00137, HG00320, HG00275, HG01047, HG01073, HG00276, HG00463, HG00246, NA19390, HG00336, HG01174, HG00607, HG00237, NA19376, HG00656, HG00131, HG01112
Known GenesGPC6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663873
Frequency
Sample Size1151
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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