A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14344435



Internal ID3029141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:5619474..5623656hg38UCSC Ensembl
Innerchr12:5619480..5623650hg38UCSC Ensembl
Outerchr12:5619468..5623662hg38UCSC Ensembl
chr12:5728640..5732822hg19UCSC Ensembl
Innerchr12:5728646..5732816hg19UCSC Ensembl
Outerchr12:5728634..5732828hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg384183
hg194183
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628389
Supporting Variants
SamplesHG02666
Known GenesANO2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14344435
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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