A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628417



Internal ID6668560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7317044..7321887hg38UCSC Ensembl
Innerchr12:7317054..7321877hg38UCSC Ensembl
Outerchr12:7317034..7321897hg38UCSC Ensembl
chr12:7469640..7474483hg19UCSC Ensembl
Innerchr12:7469650..7474473hg19UCSC Ensembl
Outerchr12:7469630..7474493hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg384844
hg194844
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14346925, essv14346926
SamplesHG01280, NA19197
Known GenesACSM4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628417
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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