A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9625903



Internal ID13426037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:12101939..12101958hg38UCSC Ensembl
Innerchr6:12101935..12101962hg38UCSC Ensembl
Outerchr6:12101916..12101981hg38UCSC Ensembl
chr6:12102172..12102191hg19UCSC Ensembl
Innerchr6:12102168..12102195hg19UCSC Ensembl
Outerchr6:12102149..12102214hg19UCSC Ensembl
chr6:12210158..12210177hg18UCSC Ensembl
Innerchr6:12210181..12210154hg18UCSC Ensembl
Outerchr6:12210135..12210200hg18UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3430431
Supporting Variants
SamplesNA12249
Known GenesHIVEP1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9625903
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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