A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11251215



Internal ID1967896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:181635873..181649101hg38UCSC Ensembl
Innerchr3:181635884..181649090hg38UCSC Ensembl
Outerchr3:181635862..181649112hg38UCSC Ensembl
chr3:181353661..181366889hg19UCSC Ensembl
Innerchr3:181353672..181366878hg19UCSC Ensembl
Outerchr3:181353650..181366900hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg3813229
hg1913229
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598894
Supporting Variants
SamplesHG01816
Known GenesSOX2-OT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11251215
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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