A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12998498



Internal ID2979810
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615402
Supporting Variants
SamplesHG02629
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12998498
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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