A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14549915



Internal ID1412790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:81144859..81148767hg38UCSC Ensembl
Innerchr12:81144925..81148702hg38UCSC Ensembl
Outerchr12:81144794..81148833hg38UCSC Ensembl
chr12:81538638..81542546hg19UCSC Ensembl
Innerchr12:81538704..81542481hg19UCSC Ensembl
Outerchr12:81538573..81542612hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg383909
hg193909
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630130
Supporting Variants
SamplesHG01281
Known GenesACSS3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14549915
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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