A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11185961



Internal ID1187777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:151793743..151833279hg38UCSC Ensembl
Innerchr3:151793745..151833278hg38UCSC Ensembl
Outerchr3:151793742..151833281hg38UCSC Ensembl
chr3:151511531..151551067hg19UCSC Ensembl
Innerchr3:151511533..151551066hg19UCSC Ensembl
Outerchr3:151511530..151551069hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3839537
hg1939537
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598188
Supporting Variants
SamplesHG01770
Known GenesAADAC, MIR548H2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11185961
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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