A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14518704



Internal ID1656581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:67276930..67279101hg38UCSC Ensembl
Innerchr12:67276950..67279082hg38UCSC Ensembl
Outerchr12:67276911..67279121hg38UCSC Ensembl
chr12:67670710..67672881hg19UCSC Ensembl
Innerchr12:67670730..67672862hg19UCSC Ensembl
Outerchr12:67670691..67672901hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg382172
hg192172
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629825
Supporting Variants
SamplesHG01522
Known GenesCAND1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14518704
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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