A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9956327



Internal ID6581620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:65175235..65184831hg38UCSC Ensembl
Innerchr1:65175235..65184831hg38UCSC Ensembl
Outerchr1:65174735..65185331hg38UCSC Ensembl
chr1:65640918..65650514hg19UCSC Ensembl
Innerchr1:65640918..65650514hg19UCSC Ensembl
Outerchr1:65640418..65651014hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg389597
hg199597
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586276
Supporting Variants
SamplesNA12340
Known GenesAK4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9956327
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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