A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25799947



Internal ID19167310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:148198163..148217692hg38UCSC Ensembl
Innerchr2:148955732..148975261hg19UCSC Ensembl
Innerchr2:148672202..148691731hg18UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg3819530
hg1919530
hg1819530
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893492
Supporting Variants
Samples
Known GenesMBD5
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=12
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25799947
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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