A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657697



Internal ID9577116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:125297419..125297753hg38UCSC Ensembl
chr3:125016263..125016597hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6482738, essv6524483, essv5423112, essv6425329, essv5993160, essv6011440, essv6412632, essv6062065, essv5893693, essv5926738, essv5439342, essv5561221, essv5493316, essv5914695, essv5509725, essv6288676, essv5872562, essv5410349, essv6291428, essv5586535, essv5461952, essv6349603, essv5876336, essv5645759, essv5418350, essv6402950, essv6085310, essv5756676
SamplesNA18870, NA19436, NA07347, NA19093, NA20346, NA18550, NA19319, NA19331, NA18507, NA18505, NA19147, NA19463, HG00638, NA18576, HG01124, NA19440, NA11894, NA19190, NA20291, NA19703, NA18498, HG01170, NA18504, NA19318, NA19452, NA18499, NA12045, NA19448
Known GenesZNF148
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657697
Frequency
Sample Size1151
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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