A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594648



Internal ID6634924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232381449..232416439hg38UCSC Ensembl
chr2:233246159..233281149hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3834991
hg1934991
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv765e214
Supporting Variantsessv10876866, essv10876862, essv10876856, essv10876863, essv10876844, essv10876855, essv10876864, essv10876850, essv10876857, essv10876852, essv10876860, essv10876847, essv10876848, essv10876861, essv10876846, essv10876859, essv10876854, essv10876851, essv10876865, essv10876858, essv10876845, essv10876853, essv10876849
SamplesHG03687, NA20752, NA20894, HG04038, HG03705, HG04022, HG03673, HG03079, HG03746, NA20845, NA20755, HG03771, HG02307, HG03871, NA19752, NA20362, NA19439, NA21095, HG03973, HG03600, HG03646, NA20849, NA21101
Known GenesALPP, ALPPL2, ECEL1P2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594648
Frequency
Sample Size2504
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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