A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668668



Internal ID9934773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:146412866..146413846hg38UCSC Ensembl
chr5:145792429..145793409hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38981
hg19981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5534938, essv6437442, essv6541620, essv6225888, essv5731002, essv6220376, essv6141145, essv6067425, essv5476554, essv6574452, essv5812150, essv6152078, essv5760325, essv5433618, essv6072127, essv5746672, essv6457948, essv6287160, essv5908115, essv6314953, essv5894890, essv6382870, essv5874187, essv6504152, essv6326424, essv6051527, essv6417299, essv5486861, essv6112608, essv5503973, essv6428116, essv6200421, essv5955434, essv6409742, essv6146925, essv5440745, essv6295857, essv5763539, essv5399101, essv6287228, essv5797092, essv6594770, essv5644431, essv6157364, essv6136013, essv5726952, essv6510247, essv6335889, essv5948873, essv6438026, essv5904098, essv5739972, essv5666244, essv5598213
SamplesNA19700, NA19397, NA19359, NA18486, NA18504, NA19377, NA18510, NA19373, NA19448, NA19457, NA19138, HG01365, NA19904, NA19130, NA20340, NA19371, NA19901, NA19189, NA19921, NA19437, NA19462, NA19347, NA19982, NA19788, NA18907, NA19461, NA19453, NA18912, NA18853, NA19452, NA19469, NA20296, NA19440, NA19256, NA19147, NA19434, NA19435, NA19444, NA19380, HG01375, HG01494, NA19428, NA19467, NA19818, NA19248, NA18873, NA19711, NA19430, NA18505, NA19312, NA19463, NA18522, NA19346, NA18487
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668668
Frequency
Sample Size1151
Observed Gain0
Observed Loss54
Observed Complex0
Frequencyn/a


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