A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34235



Internal ID12643588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21276264..21986230hg38UCSC Ensembl
Innerchr16:21287585..21997551hg19UCSC Ensembl
Innerchr16:21195086..21905052hg18UCSC Ensembl
Innerchr16:21195086..21905052hg17UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38709967
hg19709967
hg18709967
hg17709967
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6979248, essv6986827
SamplesNA18517
Known GenesCRYM, CRYM-AS1, IGSF6, LOC100190986, LOC100271836, METTL9, NPIPB3, OTOA, PDZD9, RRN3P1, SLC7A5P2, SNX29P1, UQCRC2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34235
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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