A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11397844



Internal ID2053302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39008306..39010876hg38UCSC Ensembl
Innerchr4:39008312..39010870hg38UCSC Ensembl
Outerchr4:39008300..39010882hg38UCSC Ensembl
chr4:39009926..39012496hg19UCSC Ensembl
Innerchr4:39009932..39012490hg19UCSC Ensembl
Outerchr4:39009920..39012502hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg382571
hg192571
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600272
Supporting Variants
SamplesHG01873
Known GenesTMEM156
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11397844
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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