A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9912709



Internal ID6007321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:37709878..37717161hg38UCSC Ensembl
Innerchr1:37709878..37717161hg38UCSC Ensembl
Outerchr1:37709828..37717216hg38UCSC Ensembl
chr1:38175550..38182833hg19UCSC Ensembl
Innerchr1:38175550..38182833hg19UCSC Ensembl
Outerchr1:38175500..38182888hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg387284
hg197284
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585759
Supporting Variants
SamplesNA19404
Known GenesEPHA10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9912709
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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