A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11050663



Internal ID6144499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:78816623..78929246hg38UCSC Ensembl
Innerchr3:78816676..78929193hg38UCSC Ensembl
Outerchr3:78816570..78929299hg38UCSC Ensembl
chr3:78865773..78978396hg19UCSC Ensembl
Innerchr3:78865826..78978343hg19UCSC Ensembl
Outerchr3:78865720..78978449hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38112624
hg19112624
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596693
Supporting Variants
SamplesNA19679
Known GenesROBO1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11050663
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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