A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10615242



Internal ID617058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110106453..110129423hg38UCSC Ensembl
chr2:110864030..110887000hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3822971
hg1922971
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591955
Supporting Variants
SamplesNA20348
Known GenesMALL, NPHP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10615242
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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