A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3373656



Internal ID15220631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127881320..127881330hg38UCSC Ensembl
Innerchr2:127881312..127881338hg38UCSC Ensembl
Outerchr2:127881302..127881348hg38UCSC Ensembl
chr2:128638894..128638904hg19UCSC Ensembl
Innerchr2:128638886..128638912hg19UCSC Ensembl
Outerchr2:128638876..128638922hg19UCSC Ensembl
chr2:128355364..128355374hg18UCSC Ensembl
Innerchr2:128355382..128355356hg18UCSC Ensembl
Outerchr2:128355346..128355392hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38283
hg19283
hg18283
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8908154, essv8908174, essv8908158, essv8908171, essv8908163, essv8908172, essv8908168, essv8908178, essv8908176, essv8908184, essv8908173, essv8908150, essv8908156, essv8908162, essv8908179, essv8908180, essv8908152, essv8908157, essv8908153, essv8908169, essv8908166, essv8908182, essv8908183, essv8908160, essv8908185, essv8908167, essv8908177, essv8908155, essv8908151, essv8908161, essv8908164, essv8908175, essv8908165
SamplesNA18592, NA11920, NA18603, NA12045, NA12751, NA12004, NA18959, NA18526, NA12750, NA19005, NA18944, NA18558, NA18942, NA11992, NA07347, NA18964, NA12761, NA12044, NA18973, NA18605, NA12489, NA18572, NA18537, NA11919, NA18532, NA18555, NA18945, NA18564, NA07051, NA12763, NA12749, NA18562, NA18577
Known GenesAMMECR1L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3373656
Frequency
Sample Size185
Observed Gain33
Observed Loss0
Observed Complex0
Frequencyn/a


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