A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14346925



Internal ID4348741
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628417
Supporting Variants
SamplesHG01280
Known GenesACSM4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14346925
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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