A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12997738



Internal ID4240781
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615373
Supporting Variants
SamplesHG03814
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12997738
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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