A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587710



Internal ID6628011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160235222..160235834hg38UCSC Ensembl
Innerchr1:160235258..160235799hg38UCSC Ensembl
Outerchr1:160235187..160235870hg38UCSC Ensembl
chr1:160205012..160205624hg19UCSC Ensembl
Innerchr1:160205048..160205589hg19UCSC Ensembl
Outerchr1:160204977..160205660hg19UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg38613
hg19613
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10167664, essv10167670, essv10167657, essv10167644, essv10167646, essv10167676, essv10167643, essv10167675, essv10167659, essv10167645, essv10167661, essv10167674, essv10167648, essv10167677, essv10167663, essv10167649, essv10167642, essv10167652, essv10167639, essv10167671, essv10167655, essv10167665, essv10167651, essv10167668, essv10167662, essv10167656, essv10167658, essv10167654, essv10167640, essv10167666, essv10167650, essv10167672, essv10167660, essv10167673, essv10167647, essv10167669, essv10167667, essv10167653, essv10167638, essv10167641
SamplesHG03514, HG02496, HG03121, HG03378, HG03517, HG02419, HG03115, HG03521, NA19107, HG03464, HG02325, HG01063, HG03224, NA19471, NA19036, HG02502, NA18520, HG03169, HG03363, NA19984, HG02511, HG02953, HG02497, HG03311, NA18853, NA19338, NA19395, HG01956, HG01990, NA19206, HG03367, HG02721, NA19331, NA19380, NA19334, NA20281, HG03039, HG02053, NA19900, HG03118
Known GenesDCAF8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587710
Frequency
Sample Size2504
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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