A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25779777



Internal ID18814802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:117522900..117618212hg38UCSC Ensembl
Innerchr7:117162954..117258266hg19UCSC Ensembl
Innerchr7:116950190..117045502hg18UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg3895313
hg1995313
hg1895313
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891197
Supporting Variants
Samples
Known GenesCFTR
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=41
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25779777
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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