A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10758053



Internal ID4649110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:170470362..170479519hg38UCSC Ensembl
Innerchr2:170470391..170479491hg38UCSC Ensembl
Outerchr2:170470334..170479548hg38UCSC Ensembl
chr2:171326872..171336029hg19UCSC Ensembl
Innerchr2:171326901..171336001hg19UCSC Ensembl
Outerchr2:171326844..171336058hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg389158
hg199158
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593336
Supporting Variants
SamplesHG04180
Known GenesMYO3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10758053
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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