A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656717



Internal ID9922822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7798646..7905603hg38UCSC Ensembl
chr12:7951242..8058199hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38106958
hg19106958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5843179, essv6259346, essv5947463, essv6037525, essv6085740, essv6497483, essv6181406, essv6172107, essv6162052, essv5421847, essv6378104, essv5733028, essv5422003, essv6323345, essv5877242, essv6533553, essv5424212, essv6458055, essv6252784, essv6578000
SamplesNA19648, HG00177, HG00097, HG01067, HG00338, HG01048, HG00176, HG00732, HG01095, NA19655, HG01197, NA06989, HG01190, HG00734, NA19835, NA20797, HG00267, HG01055, NA19726, HG01112
Known GenesSLC2A14
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656717
Frequency
Sample Size1151
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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