A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12997735



Internal ID4072254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146509024..146532665hg38UCSC Ensembl
Innerchr7:146509024..146532665hg38UCSC Ensembl
Outerchr7:146508524..146533165hg38UCSC Ensembl
chr7:146206116..146229757hg19UCSC Ensembl
Innerchr7:146206116..146229757hg19UCSC Ensembl
Outerchr7:146205616..146230257hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3823642
hg1923642
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615370
Supporting Variants
SamplesHG03705
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12997735
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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