A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10599273



Internal ID601089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105810087..105813518hg38UCSC Ensembl
Innerchr2:105810134..105813472hg38UCSC Ensembl
Outerchr2:105810041..105813565hg38UCSC Ensembl
chr2:106426544..106429975hg19UCSC Ensembl
Innerchr2:106426591..106429929hg19UCSC Ensembl
Outerchr2:106426498..106430022hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg383432
hg193432
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591842
Supporting Variants
SamplesHG03039
Known GenesNCK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10599273
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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