A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10670109



Internal ID1372186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130031239..130047818hg38UCSC Ensembl
Innerchr2:130031281..130047777hg38UCSC Ensembl
Outerchr2:130031198..130047860hg38UCSC Ensembl
chr2:130788812..130805391hg19UCSC Ensembl
Innerchr2:130788854..130805350hg19UCSC Ensembl
Outerchr2:130788771..130805433hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3816580
hg1916580
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592437
Supporting Variants
SamplesHG01242
Known GenesFAR2P1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10670109
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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