A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11264332



Internal ID1083313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:188356895..188376313hg38UCSC Ensembl
Innerchr3:188357045..188376163hg38UCSC Ensembl
Outerchr3:188356745..188376463hg38UCSC Ensembl
chr3:188074683..188094101hg19UCSC Ensembl
Innerchr3:188074833..188093951hg19UCSC Ensembl
Outerchr3:188074533..188094251hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3819419
hg1919419
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599029
Supporting Variants
SamplesHG00705
Known GenesLPP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11264332
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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