A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982173



Internal ID12626623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:129606197..130385197hg38UCSC Ensembl
Innerchr2:130363770..131142770hg19UCSC Ensembl
Innerchr2:130080240..130859240hg18UCSC Ensembl
Innerchr2:130080000..130859000hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38779001
hg19779001
hg18779001
hg17779001
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)essv6982173
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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