A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11199938



Internal ID1197100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:160943989..160949564hg38UCSC Ensembl
Innerchr3:160943989..160949564hg38UCSC Ensembl
Outerchr3:160943763..160949711hg38UCSC Ensembl
chr3:160661777..160667352hg19UCSC Ensembl
Innerchr3:160661777..160667352hg19UCSC Ensembl
Outerchr3:160661551..160667499hg19UCSC Ensembl
Cytoband3q25.33
Allele length
AssemblyAllele length
hg385576
hg195576
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598395
Supporting Variants
SamplesHG01069
Known GenesPPM1L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11199938
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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