A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751826



Internal ID12985378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:129606158..130385563hg38UCSC Ensembl
Innerchr2:130363731..131143136hg19UCSC Ensembl
Innerchr2:130080201..130859606hg18UCSC Ensembl
Innerchr2:130079961..130859366hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38779406
hg19779406
hg18779406
hg17779406
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6982172, essv6982173, essv6982174
SamplesBEC_40
Known GenesCCDC115, CCDC74B, FAR2P1, IMP4, LOC389033, MED15P9, MZT2B, POTEF, PTPN18, RAB6C, RAB6C-AS1, SMPD4, TUBA3E
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751826
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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