A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9647236



Internal ID13271001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:50479037..50479056hg38UCSC Ensembl
Innerchr10:50479033..50479060hg38UCSC Ensembl
Outerchr10:50479014..50479079hg38UCSC Ensembl
chr10:52238797..52238816hg19UCSC Ensembl
Innerchr10:52238793..52238820hg19UCSC Ensembl
Outerchr10:52238774..52238839hg19UCSC Ensembl
chr10:51908803..51908822hg18UCSC Ensembl
Innerchr10:51908826..51908799hg18UCSC Ensembl
Outerchr10:51908780..51908845hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3376756
Supporting Variants
SamplesNA12873
Known GenesSGMS1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9647236
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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