A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv78n100



Internal ID20151694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16660344..16949734hg38UCSC Ensembl
chr1:16986839..17276229hg19UCSC Ensembl
chr1:16859426..17148816hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38289391
hg19289391
hg18289391
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1007084, nsv997940, nsv1014131, nsv1013086, nsv1011033, nsv1006962, nsv1005714, nsv998576, nsv1004456, nsv1006624, nsv999659, nsv998520, nsv1001113, nsv999821, nsv1009507, nsv999429, nsv997587, nsv1005992, nsv1005723, nsv1013663, nsv998952, nsv1005263, nsv1011953, nsv1009239, nsv1013047, nsv1010564, nsv1007124, nsv998415, nsv1003651, nsv1007496, nsv1008540
Samples
Known GenesCROCC, ESPNP, LOC729574, MIR3675, MST1L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv78n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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