A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599538



Internal ID6639802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:7968979..7973413hg38UCSC Ensembl
Innerchr4:7969006..7973386hg38UCSC Ensembl
Outerchr4:7968952..7973440hg38UCSC Ensembl
chr4:7970706..7975140hg19UCSC Ensembl
Innerchr4:7970733..7975113hg19UCSC Ensembl
Outerchr4:7970679..7975167hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg384435
hg194435
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11337881, essv11337883, essv11337886, essv11337882, essv11337884, essv11337885
SamplesNA07037, HG00384, NA12044, NA20819, HG01187, HG00325
Known GenesABLIM2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599538
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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