A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11410792



Internal ID3003179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:42704109..42707417hg38UCSC Ensembl
Innerchr4:42704109..42707417hg38UCSC Ensembl
Outerchr4:42703706..42707722hg38UCSC Ensembl
chr4:42706126..42709434hg19UCSC Ensembl
Innerchr4:42706126..42709434hg19UCSC Ensembl
Outerchr4:42705723..42709739hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg383309
hg193309
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600357
Supporting Variants
SamplesHG02649
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11410792
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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