A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7759024



Internal ID13834121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:57750154..57750155hg38UCSC Ensembl
Innerchr2:57750125..57750184hg38UCSC Ensembl
Outerchr2:57750124..57750185hg38UCSC Ensembl
chr2:57977289..57977290hg19UCSC Ensembl
Innerchr2:57977260..57977319hg19UCSC Ensembl
Outerchr2:57977259..57977320hg19UCSC Ensembl
chr2:57830793..57830794hg18UCSC Ensembl
Innerchr2:57830823..57830764hg18UCSC Ensembl
Outerchr2:57830763..57830824hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38245
hg19245
hg18245
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3304413
Supporting Variants
SamplesNA18508
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7759024
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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