A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11337887



Internal ID1339703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8133234..8134431hg38UCSC Ensembl
Innerchr4:8133234..8134431hg38UCSC Ensembl
Outerchr4:8132960..8134654hg38UCSC Ensembl
chr4:8134961..8136158hg19UCSC Ensembl
Innerchr4:8134961..8136158hg19UCSC Ensembl
Outerchr4:8134687..8136381hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381198
hg191198
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599539
Supporting Variants
SamplesHG01365
Known GenesABLIM2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11337887
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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