A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34617



Internal ID12643967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:142641736..142783765hg38UCSC Ensembl
Innerchr7:142349239..142491575hg19UCSC Ensembl
Innerchr7:142030227..142191578hg18UCSC Ensembl
Innerchr7:141836942..141998293hg17UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38142030
hg19142337
hg18161352
hg17161352
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6978968, essv6988077, essv6978967, essv6978969
SamplesNA12812
Known GenesMTRNR2L6, PRSS1, PRSS2, PRSS3P2
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)esv34617
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer