A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9607634



Internal ID13080275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237828859..237828878hg38UCSC Ensembl
Innerchr2:237828855..237828882hg38UCSC Ensembl
Outerchr2:237828836..237828901hg38UCSC Ensembl
chr2:238737502..238737521hg19UCSC Ensembl
Innerchr2:238737498..238737525hg19UCSC Ensembl
Outerchr2:238737479..238737544hg19UCSC Ensembl
chr2:238402241..238402260hg18UCSC Ensembl
Innerchr2:238402264..238402237hg18UCSC Ensembl
Outerchr2:238402218..238402283hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3437644
Supporting Variants
SamplesNA12249
Known GenesRBM44
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9607634
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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