A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615387



Internal ID7002276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146841912..146842713hg38UCSC Ensembl
Innerchr7:146841973..146842653hg38UCSC Ensembl
Outerchr7:146841852..146842774hg38UCSC Ensembl
chr7:146539004..146539805hg19UCSC Ensembl
Innerchr7:146539065..146539745hg19UCSC Ensembl
Outerchr7:146538944..146539866hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38802
hg19802
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12998058, essv12998057, essv12998059, essv12998056, essv12998055, essv12998060, essv12998054, essv12998052, essv12998051, essv12998053
SamplesNA19028, HG02012, HG03298, HG02541, HG03370, HG01956, NA19149, NA19435, NA19143, NA19900
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615387
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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