A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29948



Internal ID11047471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16621632..16931502hg38UCSC Ensembl
Innerchr1:16948127..17257997hg19UCSC Ensembl
Innerchr1:16820714..17130584hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38309871
hg19309871
hg18309871
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv84187
SamplesWATSON
Known GenesCROCC, CROCCP2, ESPNP, LOC729574, MIR3675, MST1L, MST1P2
MethodOligo aCGH
AnalysisThe data were analyzed using the CGH Analytics software.
PlatformAgilent-014584 Human Genome 244K CGH Microarray (Alpha Test)
Comments
ReferenceWheeler_et_al_2008
Pubmed ID18421352
Accession Number(s)esv29948
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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