A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602451



Internal ID6989485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:140321551..140326167hg38UCSC Ensembl
Innerchr4:140321551..140326167hg38UCSC Ensembl
Outerchr4:140321296..140326433hg38UCSC Ensembl
chr4:141242705..141247321hg19UCSC Ensembl
Innerchr4:141242705..141247321hg19UCSC Ensembl
Outerchr4:141242450..141247587hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg384617
hg194617
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11634697, essv11634698, essv11634695, essv11634696, essv11634699
SamplesHG02386, HG00689, HG00629, HG02049, HG01801
Known GenesLOC100129858, SCOC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602451
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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