A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12997756



Internal ID1942124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146571643..146573051hg38UCSC Ensembl
Innerchr7:146571643..146573051hg38UCSC Ensembl
Outerchr7:146571631..146573074hg38UCSC Ensembl
chr7:146268735..146270143hg19UCSC Ensembl
Innerchr7:146268735..146270143hg19UCSC Ensembl
Outerchr7:146268723..146270166hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381409
hg191409
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615376
Supporting Variants
SamplesHG01805
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12997756
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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