A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8947941



Internal ID13820248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:34323306..34323348hg38UCSC Ensembl
Innerchr10:34323323..34323329hg38UCSC Ensembl
Outerchr10:34323281..34323371hg38UCSC Ensembl
chr10:34612234..34612276hg19UCSC Ensembl
Innerchr10:34612251..34612257hg19UCSC Ensembl
Outerchr10:34612209..34612299hg19UCSC Ensembl
chr10:34652240..34652282hg18UCSC Ensembl
Innerchr10:34652263..34652257hg18UCSC Ensembl
Outerchr10:34652215..34652305hg18UCSC Ensembl
Cytoband10p11.21
Allele length
AssemblyAllele length
hg38214
hg19214
hg18214
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3410238
Supporting Variants
SamplesNA18505
Known GenesPARD3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8947941
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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