A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10887261



Internal ID889077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237797773..237868700hg38UCSC Ensembl
chr2:238706416..238777343hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3870928
hg1970928
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594749
Supporting Variants
SamplesHG03139
Known GenesRAMP1, RBM44
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10887261
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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