A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615413



Internal ID6655612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148394107..148397182hg38UCSC Ensembl
Innerchr7:148394107..148397182hg38UCSC Ensembl
Outerchr7:148393959..148397360hg38UCSC Ensembl
chr7:148091199..148094274hg19UCSC Ensembl
Innerchr7:148091199..148094274hg19UCSC Ensembl
Outerchr7:148091051..148094452hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg383076
hg193076
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13001675, essv13001674
SamplesNA18632, HG00436
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615413
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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