A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614335



Internal ID7001229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:101437984..101438946hg38UCSC Ensembl
Innerchr7:101437985..101438946hg38UCSC Ensembl
Outerchr7:101437984..101438947hg38UCSC Ensembl
chr7:101081265..101082227hg19UCSC Ensembl
Innerchr7:101081266..101082227hg19UCSC Ensembl
Outerchr7:101081265..101082228hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38963
hg19963
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12910717, essv12910715, essv12910718, essv12910742, essv12910716, essv12910712, essv12910699, essv12910730, essv12910736, essv12910726, essv12910732, essv12910728, essv12910743, essv12910702, essv12910709, essv12910735, essv12910721, essv12910724, essv12910719, essv12910741, essv12910698, essv12910725, essv12910713, essv12910751, essv12910746, essv12910723, essv12910738, essv12910703, essv12910727, essv12910700, essv12910701, essv12910731, essv12910753, essv12910744, essv12910714, essv12910705, essv12910734, essv12910739, essv12910752, essv12910747, essv12910750, essv12910748, essv12910749, essv12910708, essv12910740, essv12910722, essv12910737, essv12910720, essv12910704, essv12910733, essv12910707, essv12910729, essv12910706, essv12910710, essv12910711, essv12910745
SamplesHG01746, HG01462, NA11995, NA12814, HG01537, HG00315, HG00181, NA12399, HG01694, HG01522, HG00271, HG00641, NA19792, HG01506, HG00109, HG01702, HG00173, NA18558, HG01710, NA11992, NA20768, HG01668, NA12282, HG01398, HG00120, NA20278, HG01519, HG01440, HG01259, HG00118, HG01198, HG00253, NA12748, HG00133, NA20535, NA12489, HG01360, NA20314, HG02144, NA19788, NA20767, HG01777, NA19756, HG02223, HG00136, HG00638, NA20530, NA20792, NA12874, NA12347, HG01556, HG00174, NA12890, NA07000, HG01112, HG01923
Known GenesCOL26A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614335
Frequency
Sample Size2504
Observed Gain0
Observed Loss56
Observed Complex0
Frequencyn/a


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