A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9758118



Internal ID18385678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:136217044..136219803hg38UCSC Ensembl
OuterchrX:136217015..136220006hg38UCSC Ensembl
InnerchrX:135299203..135301962hg19UCSC Ensembl
OuterchrX:135299174..135302165hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg382992
hg192992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3559371
Supporting Variants
Samples
Known GenesMAP7D3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9758118
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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