A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10719659



Internal ID5966375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:154394217..154437251hg38UCSC Ensembl
chr2:155250729..155293763hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3843035
hg1943035
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592987
Supporting Variants
SamplesNA19379
Known GenesGALNT13, LOC100144595
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10719659
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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