A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615373



Internal ID6655572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146532419..146798681hg38UCSC Ensembl
Innerchr7:146532436..146798665hg38UCSC Ensembl
Outerchr7:146532403..146798698hg38UCSC Ensembl
chr7:146229511..146495773hg19UCSC Ensembl
Innerchr7:146229528..146495757hg19UCSC Ensembl
Outerchr7:146229495..146495790hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38266263
hg19266263
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12997738
SamplesHG03814
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615373
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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