A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615402



Internal ID7002291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147735793..147738240hg38UCSC Ensembl
Innerchr7:147735797..147738237hg38UCSC Ensembl
Outerchr7:147735790..147738244hg38UCSC Ensembl
chr7:147432885..147435332hg19UCSC Ensembl
Innerchr7:147432889..147435329hg19UCSC Ensembl
Outerchr7:147432882..147435336hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg382448
hg192448
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12998501, essv12998498, essv12998500, essv12998502, essv12998499, essv12998503
SamplesHG03484, HG03449, HG03382, HG03557, HG03376, HG02629
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615402
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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