A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600930



Internal ID6987969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:70093989..70216338hg38UCSC Ensembl
chr4:70959706..71082055hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38122350
hg19122350
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11493583, essv11493582, essv11493585, essv11493584
SamplesNA19703, NA19920, HG01088, HG02805
Known GenesC4orf40, CSN1S2BP, ODAM
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600930
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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