A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13622705



Internal ID3624521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:127870832..127871776hg38UCSC Ensembl
Innerchr9:127870834..127871774hg38UCSC Ensembl
Outerchr9:127870830..127871778hg38UCSC Ensembl
chr9:130633111..130634055hg19UCSC Ensembl
Innerchr9:130633113..130634053hg19UCSC Ensembl
Outerchr9:130633109..130634057hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38945
hg19945
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621796
Supporting Variants
SamplesHG03539
Known GenesAK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13622705
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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