A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592440



Internal ID6979767
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10670248, essv10670247, essv10670249, essv10670246
SamplesHG02489, HG01353, HG00154, HG01257
Known GenesMZT2B, SMPD4, TUBA3E
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592440
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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