A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982174



Internal ID12626616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:129617576..130385563hg38UCSC Ensembl
Innerchr2:130375149..131143136hg19UCSC Ensembl
Innerchr2:130091619..130859606hg18UCSC Ensembl
Innerchr2:130091379..130859366hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38767988
hg19767988
hg18767988
hg17767988
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751826
Supporting Variants
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
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982174
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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