A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10711170



Internal ID712986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:151571476..153829714hg38UCSC Ensembl
Innerchr2:151571976..153829214hg38UCSC Ensembl
Outerchr2:151570476..153830714hg38UCSC Ensembl
chr2:152427990..154686227hg19UCSC Ensembl
Innerchr2:152428490..154685727hg19UCSC Ensembl
Outerchr2:152426990..154687227hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg382258239
hg192258238
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592922
Supporting Variants
SamplesHG03160
Known GenesARL5A, ARL6IP6, CACNB4, FMNL2, NEB, PRPF40A, RPRM, STAM2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10711170
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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