A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv165e55



Internal ID18985396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241576690..242072479hg38UCSC Ensembl
chr2:242516105..243014630hg19UCSC Ensembl
chr2:242164778..242663303hg18UCSC Ensembl
chr2:242236095..242730382hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38495790
hg19498526
hg18498526
hg17494288
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2751850, esv2751852, esv2751857, esv2751858, esv2751854, esv2751846, esv2751855, esv2751859, esv2751853, esv2751849, esv2751851, esv2751847, esv2751848, esv2751856
SamplesBEC_649, BEC_567, BEC_541, BEC_667, BEC_587, BEC_236, BEC_707, BEC_32, BEC_593, BEC_448, SPC_163, BEC_718, BEC_647, BEC_785
Known GenesATG4B, CXXC11, D2HGDH, DTYMK, GAL3ST2, ING5, NEU4, PDCD1, THAP4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv165e55
Frequency
Sample Size771
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer