A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10670248



Internal ID1463789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130145821..130197206hg38UCSC Ensembl
chr2:130903394..130954779hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3851386
hg1951386
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592440
Supporting Variants
SamplesHG01353
Known GenesMZT2B, SMPD4, TUBA3E
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10670248
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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