A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602600



Internal ID6989633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:147456185..147460683hg38UCSC Ensembl
Innerchr4:147456197..147460671hg38UCSC Ensembl
Outerchr4:147456173..147460695hg38UCSC Ensembl
chr4:148377337..148381835hg19UCSC Ensembl
Innerchr4:148377349..148381823hg19UCSC Ensembl
Outerchr4:148377325..148381847hg19UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg384499
hg194499
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11648317, essv11648318
SamplesHG01069, HG03072
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602600
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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