A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14486733



Internal ID4488549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56762971..56780702hg38UCSC Ensembl
Innerchr12:56763016..56780657hg38UCSC Ensembl
Outerchr12:56762926..56780747hg38UCSC Ensembl
chr12:57156755..57174486hg19UCSC Ensembl
Innerchr12:57156800..57174441hg19UCSC Ensembl
Outerchr12:57156710..57174531hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3817732
hg1917732
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629600
Supporting Variants
SamplesNA19678
Known GenesHSD17B6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14486733
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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