A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10533812



Internal ID535628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:68463983..68522612hg38UCSC Ensembl
Innerchr2:68463983..68522612hg38UCSC Ensembl
Outerchr2:68463483..68523112hg38UCSC Ensembl
chr2:68691115..68749744hg19UCSC Ensembl
Innerchr2:68691115..68749744hg19UCSC Ensembl
Outerchr2:68690615..68750244hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3858630
hg1958630
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591168
Supporting Variants
SamplesHG04054
Known GenesAPLF, FBXO48
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10533812
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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