A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671682



Internal ID9937787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:228584200..228588206hg38UCSC Ensembl
Outerchr2:228583829..228588576hg38UCSC Ensembl
Innerchr2:229448916..229452922hg19UCSC Ensembl
Outerchr2:229448545..229453292hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg384748
hg194748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5635790, essv5866322, essv5911524, essv5823227, essv5786064, essv5907712, essv6468282, essv6347718, essv6238687, essv6508151, essv5926117, essv6324503, essv6271629, essv5735864, essv6450743, essv6593615, essv6196872, essv5632501, essv5528546, essv6043518, essv5912392, essv6417317, essv6391359, essv6386234, essv5825378, essv6042355, essv6183212, essv6593749, essv6043021
SamplesNA19466, NA19332, NA19377, NA19443, NA19446, NA19373, NA19457, NA19384, NA19372, NA19471, NA19347, NA19455, NA19449, NA19318, NA19395, NA19436, NA19375, NA19321, NA19434, NA19435, NA19470, NA19324, NA19467, NA19472, NA19468, NA19474, NA19430, NA19312, NA19429
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671682
Frequency
Sample Size1151
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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