A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671813



Internal ID9937918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:144547161..144556240hg38UCSC Ensembl
chrX:143628682..143637761hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg389080
hg199080
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1404e199
Supporting Variantsessv5730180, essv5759040, essv6125920, essv5667985, essv6576594, essv6060833, essv5709826, essv5711813, essv5403070, essv5894343, essv5492346, essv5526150, essv6131433, essv5617302, essv6218748, essv6449588, essv5414609, essv6189872, essv6347425, essv6116442, essv6389238, essv5857333, essv5536157, essv5724767, essv6200676, essv6293882, essv5990776, essv6551364, essv5521364, essv6172552, essv6186268, essv6219189, essv5799769, essv6165056, essv5986000, essv5440693, essv6093688, essv5962279, essv5672203, essv6042159, essv5483594, essv5450533
SamplesNA20508, NA18592, HG00559, HG00187, HG01188, NA18603, HG00640, HG00449, NA20517, NA20507, HG01070, HG00272, HG00173, NA19681, NA19079, NA19651, HG00154, HG00282, HG00245, HG00428, HG00344, NA12718, NA18630, NA19654, HG00324, NA20581, NA20828, NA20542, NA19675, NA18541, HG00124, NA20801, HG01190, HG00565, HG00366, HG01174, NA19679, HG00111, NA20582, NA19716, HG00171, HG00554
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671813
Frequency
Sample Size1151
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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