A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594752



Internal ID6635028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237836898..237866996hg38UCSC Ensembl
Innerchr2:237837048..237866846hg38UCSC Ensembl
Outerchr2:237836748..237867146hg38UCSC Ensembl
chr2:238745541..238775639hg19UCSC Ensembl
Innerchr2:238745691..238775489hg19UCSC Ensembl
Outerchr2:238745391..238775789hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3830099
hg1930099
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10887383
SamplesHG03139
Known GenesRAMP1, RBM44
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594752
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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