A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591151



Internal ID6978479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:67531808..67539088hg38UCSC Ensembl
chr2:67758940..67766220hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg387281
hg197281
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10532630, essv10532634, essv10532628, essv10532617, essv10532636, essv10532611, essv10532622, essv10532616, essv10532618, essv10532624, essv10532629, essv10532639, essv10532615, essv10532612, essv10532620, essv10532614, essv10532623, essv10532633, essv10532635, essv10532613, essv10532621, essv10532627, essv10532638, essv10532640, essv10532625, essv10532619, essv10532626, essv10532631, essv10532637, essv10532632
SamplesHG03548, NA19204, NA18486, HG02323, NA20346, HG03172, NA19920, HG02621, NA19119, HG02645, HG01134, HG03268, NA19917, HG03352, HG02819, HG02716, HG03343, NA19982, NA18871, NA18879, HG02332, HG01988, NA18858, HG03240, HG01894, HG01375, HG02580, NA20357, NA19818, HG01912
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591151
Frequency
Sample Size2504
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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