A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12997914



Internal ID4240627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146611544..146627916hg38UCSC Ensembl
Innerchr7:146611544..146627916hg38UCSC Ensembl
Outerchr7:146611044..146628416hg38UCSC Ensembl
chr7:146308636..146325008hg19UCSC Ensembl
Innerchr7:146308636..146325008hg19UCSC Ensembl
Outerchr7:146308136..146325508hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3816373
hg1916373
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615379
Supporting Variants
SamplesHG03814
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12997914
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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