A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663375



Internal ID9582794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:143514744..143718019hg38UCSC Ensembl
chrX:142602573..142801113hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg38203276
hg19198541
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1403e199
Supporting Variantsessv5705465, essv5427290, essv6285732, essv6242679, essv6199162, essv5693981, essv5982094, essv5788401, essv5485522, essv5442573, essv5982361, essv5935333, essv6146128, essv5581224, essv6512333, essv5799397, essv6536348, essv5650134, essv6233181, essv5693609, essv5472544, essv5529815, essv5776568, essv6390110, essv6008297, essv5923094, essv6401484, essv6310008, essv6316695, essv5580235, essv6047071, essv6129275, essv6404551, essv5648093, essv5424989, essv5623383, essv5401207, essv5528436, essv5891804, essv5644625, essv5970810, essv6166720
SamplesHG00442, HG01173, NA19397, NA19359, NA19057, NA18596, NA19377, NA19443, NA12155, NA20806, NA18550, NA18982, HG00634, NA19088, NA19054, HG00683, HG00325, NA18557, NA18908, NA19451, NA18638, HG01384, NA19347, HG00436, NA19461, NA19059, NA19009, NA18555, NA18536, HG00375, NA19010, NA20790, NA19835, HG00607, NA19360, HG01489, NA18631, NA20510, HG00310, NA18983, NA19004, NA18624
Known GenesSLITRK4, SPANXN2, SPANXN3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663375
Frequency
Sample Size1151
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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