A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11083855



Internal ID1177781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100022539..100038075hg38UCSC Ensembl
Innerchr3:100023039..100037575hg38UCSC Ensembl
Outerchr3:100021539..100039075hg38UCSC Ensembl
chr3:99741383..99756919hg19UCSC Ensembl
Innerchr3:99741883..99756419hg19UCSC Ensembl
Outerchr3:99740383..99757919hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg3815537
hg1915537
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597164
Supporting Variants
SamplesHG01055
Known GenesCMSS1, FILIP1L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11083855
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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