A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv30e1



Internal ID6307828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16808694..17342768hg19UCSC Ensembl
chr1:16681281..17215355hg18UCSC Ensembl
chr1:16554000..17088074hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Complex
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv8984, essv6477, essv13252, essv12447, essv8586, essv8565, essv12117, essv12088, essv9441, essv10959, essv11038, essv7960, essv13308, essv14673, essv14574, essv12895, essv15194, essv6464, essv13338, essv23321, essv7936, essv16559, essv15917, essv10181, essv949, essv8050, essv12873, essv7990, essv10442, essv18898, essv8266, essv21574, essv19900, essv4644, essv9970, essv14235, essv8718, essv9267
SamplesNA18503, NA19137, NA19152, NA18594, NA19173, NA19209, NA18500, NA12264, NA18516, NA12813, NA19203, NA19208, NA19143, NA18636, NA18637, NA19100, NA19153, NA18515, NA19103, NA18522, NA18502, NA19139, NA18504, NA19221, NA19145, NA12146, NA19201, NA19193, NA19099, NA19205, NA19130, NA12717, NA19204, NA18981, NA19092, NA19200, NA19202
Known GenesATP13A2, CROCC, CROCCP2, CROCCP3, ESPNP, MFAP2, MIR3675, MST1P2, MST1P9, NBPF1
Method
Analysis
Platform
Comments
ReferenceRedon et al 2006
Pubmed ID17122850
Accession Number(s)dgv30e1
Frequency
Sample Size271
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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