A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978969



Internal ID12632715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:142641794..142783472hg38UCSC Ensembl
Innerchr7:142349297..142491282hg19UCSC Ensembl
Innerchr7:142030285..142191285hg18UCSC Ensembl
Innerchr7:141837000..141998000hg17UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38141679
hg19141986
hg18161001
hg17161001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34617
Supporting Variants
SamplesNA12812
Known GenesMTRNR2L6, PRSS1, PRSS2, PRSS3P2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978969
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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