A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4123727



Internal ID11059580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:150382880..150383216hg38UCSC Ensembl
chrX:149551148..149551484hg19UCSC Ensembl
chrX:149301806..149302142hg18UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38337
hg19337
hg18337
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1779711
Supporting Variants
SamplesHuRef
Known GenesMAMLD1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4123727
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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