A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9895649



Internal ID6520942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:31305382..31307670hg38UCSC Ensembl
Innerchr1:31305432..31307620hg38UCSC Ensembl
Outerchr1:31305293..31307759hg38UCSC Ensembl
chr1:31778229..31780517hg19UCSC Ensembl
Innerchr1:31778279..31780467hg19UCSC Ensembl
Outerchr1:31778140..31780606hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg382289
hg192289
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585647
Supporting Variants
SamplesHG02050
Known GenesZCCHC17
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9895649
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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