A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674513



Internal ID9940618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:54986942..54988567hg38UCSC Ensembl
chr20:53603481..53605106hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg381626
hg191626
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5932480, essv6361649, essv5881130, essv5965232, essv5836490, essv6432062, essv6005308, essv6373125, essv5467008, essv6077050, essv6347752, essv5739692, essv5577004, essv5589575, essv6514769, essv5837862, essv6423869, essv5815113, essv6528709, essv5520624, essv5738221, essv6131121, essv6164558, essv5610309, essv6577582, essv5503404, essv5849345, essv6119979, essv5395672, essv6402602, essv5824539, essv5710116, essv6468581, essv5939348, essv6129563, essv6292512, essv5587744
SamplesNA19332, NA19355, NA19377, NA19107, NA19374, NA19373, NA19448, NA19916, NA19313, NA19384, NA18868, NA19372, NA19371, NA19471, NA19456, NA19445, NA19921, NA19247, NA18910, NA18912, NA19225, NA19395, NA18858, NA19108, NA18517, NA19434, NA19428, NA20281, HG01489, NA19438, NA19472, NA19474, NA19093, NA19102, NA18511, NA18522, NA19429
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674513
Frequency
Sample Size1151
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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