A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657991



Internal ID9924096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:106628420..106629188hg38UCSC Ensembl
chr7:106268866..106269634hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg38769
hg19769
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6296201, essv6485982, essv6265437, essv5550875, essv6127304, essv6287036, essv6327933, essv6072979, essv5553742, essv6292778, essv6192403, essv6104140, essv6066241, essv6402184, essv5607129, essv6471294, essv5537644, essv5476345
SamplesNA18508, NA18486, HG00148, HG00325, HG00324, NA19461, HG01383, NA19338, NA20828, HG00141, HG01190, NA19144, NA19439, NA19311, NA19360, HG00186, NA19116, NA19129
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657991
Frequency
Sample Size1151
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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