A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11050662



Internal ID5099003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:78758259..78760484hg38UCSC Ensembl
Innerchr3:78758259..78760484hg38UCSC Ensembl
Outerchr3:78758065..78760706hg38UCSC Ensembl
chr3:78807409..78809634hg19UCSC Ensembl
Innerchr3:78807409..78809634hg19UCSC Ensembl
Outerchr3:78807215..78809856hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg382226
hg192226
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596692
Supporting Variants
SamplesNA18552
Known GenesROBO1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11050662
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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