A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673340



Internal ID9939445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:49254388..49255181hg38UCSC Ensembl
chr16:49288299..49289092hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38794
hg19794
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6485295, essv5860903, essv6446291, essv5798289, essv5436932, essv5702958, essv5809136, essv6486267, essv5503145, essv5760827, essv5672826, essv6206586, essv6249704, essv5713749, essv6535077, essv6246259, essv6189908, essv6148502, essv5526609, essv6399830, essv6194149, essv6245498, essv6450411, essv6256807, essv5615928, essv5949903, essv6295320, essv5821401, essv5869574, essv6085861, essv5580214, essv6109334, essv5587289, essv5607238, essv6486690, essv6303023, essv5447849
SamplesNA19397, NA18861, NA19190, NA20356, NA19374, NA19396, NA19171, NA19448, NA18923, NA19197, NA20287, HG01134, NA19917, NA19372, NA19238, NA19189, NA20342, NA19456, NA19707, NA18933, NA18516, HG01197, NA19225, HG01107, NA19436, NA20296, NA19401, NA19390, NA20276, NA19144, NA19835, NA19334, NA19467, NA19328, NA19438, NA19223, NA18511
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673340
Frequency
Sample Size1151
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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