A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864052



Internal ID13316508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:174403304..174403316hg38UCSC Ensembl
Innerchr2:174403281..174403339hg38UCSC Ensembl
Outerchr2:174403269..174403351hg38UCSC Ensembl
chr2:175268032..175268044hg19UCSC Ensembl
Innerchr2:175268009..175268067hg19UCSC Ensembl
Outerchr2:175267997..175268079hg19UCSC Ensembl
chr2:174976278..174976290hg18UCSC Ensembl
Innerchr2:174976313..174976255hg18UCSC Ensembl
Outerchr2:174976243..174976325hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3332152
Supporting Variants
SamplesNA12005
Known GenesSCRN3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864052
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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