A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14570252



Internal ID351872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92906321..92909369hg38UCSC Ensembl
Innerchr12:92906339..92909352hg38UCSC Ensembl
Outerchr12:92906304..92909387hg38UCSC Ensembl
chr12:93300097..93303145hg19UCSC Ensembl
Innerchr12:93300115..93303128hg19UCSC Ensembl
Outerchr12:93300080..93303163hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg383049
hg193049
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630387
Supporting Variants
SamplesHG00097
Known GenesEEA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14570252
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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