A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615370



Internal ID6655569
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12997735
SamplesHG03705
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615370
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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