A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600943



Internal ID6641201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:70936546..70939079hg38UCSC Ensembl
Innerchr4:70936596..70939029hg38UCSC Ensembl
Outerchr4:70936496..70939129hg38UCSC Ensembl
chr4:71802263..71804796hg19UCSC Ensembl
Innerchr4:71802313..71804746hg19UCSC Ensembl
Outerchr4:71802213..71804846hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg382534
hg192534
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11494454, essv11494457, essv11494453, essv11494452, essv11494458, essv11494455, essv11494456, essv11494451
SamplesHG02649, HG01942, HG04056, HG02789, HG03787, HG03978, HG03866, HG04189
Known GenesMOB1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600943
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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