A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14333429



Internal ID4335245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1242062..1244754hg38UCSC Ensembl
Innerchr12:1242086..1244731hg38UCSC Ensembl
Outerchr12:1242039..1244778hg38UCSC Ensembl
chr12:1351228..1353920hg19UCSC Ensembl
Innerchr12:1351252..1353897hg19UCSC Ensembl
Outerchr12:1351205..1353944hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg382693
hg192693
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628273
Supporting Variants
SamplesNA19380
Known GenesERC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14333429
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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