A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601049



Internal ID6988088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:76245088..76257979hg38UCSC Ensembl
Innerchr4:76245089..76257979hg38UCSC Ensembl
Outerchr4:76245088..76257980hg38UCSC Ensembl
chr4:77166241..77179132hg19UCSC Ensembl
Innerchr4:77166242..77179132hg19UCSC Ensembl
Outerchr4:77166241..77179133hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg3812892
hg1912892
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11508246, essv11508240, essv11508255, essv11508259, essv11508258, essv11508241, essv11508260, essv11508243, essv11508254, essv11508252, essv11508249, essv11508251, essv11508245, essv11508253, essv11508256, essv11508257, essv11508244, essv11508242, essv11508248, essv11508247, essv11508250
SamplesHG03096, NA19378, NA19443, NA19385, NA19317, HG02623, NA19456, NA19327, HG02470, HG02807, NA19390, NA19331, NA19334, HG02982, HG02839, NA19360, NA19351, HG02646, NA19430, NA19316, NA19429
Known GenesFAM47E, FAM47E-STBD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601049
Frequency
Sample Size2504
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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