A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678028



Internal ID9597447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:209540495..209541635hg38UCSC Ensembl
chr2:210405219..210406359hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg381141
hg191141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6464460, essv6464528, essv6563029, essv6307729, essv5716999, essv6530514, essv5577860, essv6420105, essv5906287, essv6384466, essv6102011, essv6572853, essv5530635, essv5789392, essv5456227, essv5902309, essv6176431, essv5732325, essv5852003, essv6128295, essv5885954, essv5546219, essv6065148, essv6358975, essv6234237, essv6163611, essv5542637, essv5836234
SamplesNA18870, NA19248, NA19312, NA19437, NA19114, NA19223, NA19451, NA19449, NA18489, NA19461, HG01134, NA19147, NA18868, NA18912, HG00638, NA19107, NA18916, NA19313, HG01111, NA18498, NA18522, NA18502, NA19235, NA19138, NA19116, NA19818, NA18908, NA19092
Known GenesMAP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678028
Frequency
Sample Size1151
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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