A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14346924



Internal ID4348740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7312715..7318386hg38UCSC Ensembl
Innerchr12:7312728..7318374hg38UCSC Ensembl
Outerchr12:7312703..7318399hg38UCSC Ensembl
chr12:7465311..7470982hg19UCSC Ensembl
Innerchr12:7465324..7470970hg19UCSC Ensembl
Outerchr12:7465299..7470995hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg385672
hg195672
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628416
Supporting Variants
SamplesHG03824
Known GenesACSM4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14346924
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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